BCL11B:Ensemblv90

B-cell CLL/lymphoma 11B
OMIM: 606558, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green BCL11B in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.73

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniosynostosis, MONDO:0015469, BCL11B-related

Green BCL11B in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092

Green BCL11B in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.138

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 49, MIM# 617237
    • Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092

    Green BCL11B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092

    Green BCL11B in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Craniosynostosis, MONDO:0015469, BCL11B-related

    Green BCL11B in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Immunodeficiency 49, MIM# 617237
    • Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092